ClinVar for MedGen (Select 6461) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1675216	NM_002381.5(MATN3):c.693G>C (p.Lys231Asn)	MATN3 (K231N)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia	Gnot provided
Select item 1675215	NM_002381.5(MATN3):c.652T>A (p.Tyr218Asn)	MATN3 (Y218N)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia	Gnot provided
Select item 1675214	NM_002381.5(MATN3):c.584C>A (p.Thr195Lys)	MATN3 (T195K)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia	Gnot provided
Select item 1675213	NM_000095.3(COMP):c.1099_1104del (p.Arg367_Gly368del)	COMP	Deletion (inframe_deletion)	Multiple epiphyseal dysplasia	Gnot provided
Select item 1675212	NM_002381.5(MATN3):c.575T>A (p.Ile192Asn)	MATN3 (I192N)	Single nucleotide variant (missense variant)	Connective tissue disorder	GUncertain significance
Select item 1675211	NM_002381.5(MATN3):c.513_530del (p.Asp171_Val176del)	MATN3	Deletion (inframe_deletion)	Multiple epiphyseal dysplasia	Gnot provided
Select item 1675210	NM_002381.5(MATN3):c.437T>G (p.Leu146Arg)	MATN3 (L146R)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia	Gnot provided
Select item 1675209	NM_002381.5(MATN3):c.400G>A (p.Glu134Lys)	MATN3 (E134K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1675208	NM_000095.3(COMP):c.500G>A (p.Gly167Glu)	COMP (G167E)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia	Gnot provided
Select item 1327423	NM_000095.3(COMP):c.1501G>A (p.Gly501Ser)	COMP (G501S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1011244	NM_002381.5(MATN3):c.626G>C (p.Arg209Pro)	MATN3 (R209P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988351	NM_000095.3(COMP):c.1153G>A (p.Asp385Asn)	COMP (D385N)	Single nucleotide variant (missense variant)	Carpal tunnel syndrome 2 +3 more	GPathogenic/Likely pathogenic
Select item 801652	NM_002381.5(MATN3):c.659T>C (p.Val220Ala)	MATN3 (V220A)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5	GUncertain significance
Select item 441248	NM_001159773.2(CANT1):c.511A>T (p.Ile171Phe)	CANT1 (I171F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374114	NM_001844.5(COL2A1):c.1916G>A (p.Gly639Asp)	COL2A1 (G639D +1 more)	Single nucleotide variant (missense variant)	Hypoplastic acetabulae +6 more	GLikely pathogenic
Select item 195171	NM_002381.5(MATN3):c.518C>A (p.Ala173Asp)	MATN3 (A173D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 65664	NM_002381.5(MATN3):c.359C>T (p.Thr120Met)	MATN3 (T120M)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, matrilin-3 type +2 more	GPathogenic/Likely pathogenic
Select item 65557	NM_000095.3(COMP):c.2153G>C (p.Arg718Pro)	COMP (R718P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 65556	NM_000095.3(COMP):c.2042C>G (p.Ser681Cys)	COMP (S681C)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia	Gnot provided
Select item 65555	NM_000095.3(COMP):c.1813G>A (p.Asp605Asn)	COMP (D605N)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia	Gnot provided
Select item 65554	NM_000095.3(COMP):c.1665C>A (p.Asn555Lys)	COMP (N555K)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia	Gnot provided
Select item 65553	NM_000095.3(COMP):c.1156_1158del (p.Asn386del)	COMP (N386del)	Deletion (inframe_deletion)	Multiple epiphyseal dysplasia	Gnot provided
Select item 40995	NM_000095.3(COMP):c.1754C>T (p.Thr585Met)	COMP (T585M)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 40994	NM_000095.3(COMP):c.1754C>G (p.Thr585Arg)	COMP (T585R)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1 +2 more	GPathogenic
Select item 9198	NM_000095.3(COMP):c.2152C>T (p.Arg718Trp)	COMP (R718W)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1 +1 more	GPathogenic/Likely pathogenic
Select item 9193	NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup)	COMP	Microsatellite (inframe_insertion)	Multiple epiphyseal dysplasia type 1 +1 more	GPathogenic/Likely pathogenic
Select item 9189	NM_000095.3(COMP):c.1569C>G (p.Asn523Lys)	COMP (N523K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 7545	NM_002381.5(MATN3):c.209G>A (p.Arg70His)	MATN3 (R70H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 7543	NM_002381.5(MATN3):c.656C>A (p.Ala219Asp)	MATN3 (A219D)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5	GPathogenic
Select item 7541	NM_002381.5(MATN3):c.361C>T (p.Arg121Trp)	MATN3 (R121W)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5 +1 more	GPathogenic/Likely pathogenic
Select item 7540	NM_002381.5(MATN3):c.581T>A (p.Val194Asp)	MATN3 (V194D)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5	GPathogenic

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Items: 31